GENETICS

Chapter 1 – General
introductions
Examples
Hemophilia is the genetic defect
in human when blood clothing is
deficient leading to the
spontaneous bleeding.

Gene for Fix and Fviii are located

on chromosome X
There are more than 1300 alteration in the Fviii gene, many of them cause
Haemophilla from mild to severe states.
Novel mutation in Fviii gene cause Haemophillia A

deletion

Nissenetal.BMCHematology (2018) 18:17

Family transmission of haemophillia among
European Royal families

http://sciencecases.lib.buffalo.edu/cs/files/hemo.pdf
What is Genetics?
Science studies:genes, genetic variation and
heredity in organisms
The importance of genetics
Demonstrate the roles of genes and how they
affect organism’s life and health
Started with domestication, now genetics has
contributed to the improvement of plants and
animals by engineering and propagation.
Genetics also plays role in pharmaceutical industry
where drugs, food additives and bio-products are
genetically produced from bacteria, fungi… to
make them efficient producers in industry.
Understanding in genetics helps physicians
recognize many gene disorders… that finally lead
to the development of therapies…
Division of genetics
Transmission genetics – study how traits are
passed from one generation to the next.
Molecular genetics – study the chemical nature
of gene and gene products.
Population genetics – study the genetic
composition of the group of individuals from the
same species.
Transmission
genetics Molecular
genetics

Population
genetics
The rise of science of
genetics
 Domestication and agriculture recorded the
first understanding of genetics
Selection of the good trait for next crop
Many plants and animals were products of
domestication: wheat, pea, lentil, barley, dog,
goat, sheep.
Many products were produced by simple
crossing making them more variable.
 The early written records
Hemophilia inherited through mother
Human reproduction through pangenesis
hypothesis
The rise of modern genetics
The discovery of cell under simple microscope
by Robert Hook (1653-1703)
Nehemiah Grew (1641–1712) reported that
plants re- produce sexually by using pollen from
the male sex cells
Gregor Mendel (1822–1884) discovered the
basic principles of heredity
Matthis Jacob Schleiden (1804–1881) and
Theodor Schwann (1810–1882) proposed the
concept of the cell theory in 1839

Charles Darwin (1809 – 1882) put forth the
theory of evolution through natural selection
and published his ideas in On the Origin of
Species in 1856
WalterFlemming(1843 – 1905) observed the
division of chromosomes in 1879 and
published a superb description of mitosis
The twentieth-century genetics
Walter Sutton (1877–1916) proposed in 1902
that genes are located on chromosomes.
Thomas Hunt Morgan (1866 – 1945) discovered
the first genetic mutant of fruit flies in 1910 and
used fruit flies to unravel many details of trans-
mission genetics
James Watson (b. 1928) and Francis Crick (b.
1916) described the three-dimensional structure
of DNA in 1953, ushering in the era of molecular
genetics.
The future of genetics
………

http://margreetdeheer.com/eng/science.html
The fundamental concepts of
genetics
Cells are of two basic types: eukaryotic and
prokaryotic. Prokaryotic cells lack a nuclear
membrane and posses no membrane-
bounded cell organelles, whereas eukaryotic
cell are more complex, possessing a nucleus
and membrane-bounded organeles.
The gene is the fundamental unit of
heredity. Gene is the unit of information that
encodes a genetic characteristics
Genes come in multiple forms called alleles.
A gene that specifies a characteristic may
exist in multiple forms called alleles
Genes confer phenotypes: genes code
for the traits, along with the environmental
factors, determine phenotypes. Genes are
inherited but not the phenotype.
Genetic information is carried in DNA
and RNA.
Genes are located on chromosomes.
Chromosomes are separated through the
process of mitosis and meiosis.
Genetic information is transferred from
DNA to RNA to protein
Mutations are permanent, heritable
changes in genetic information
Some traits are affected by multiple
factors. The human height is affected by
17 regions in genome (by genome wide
screening).
Evolution is genetic change
1. General introduction
2. Cell reproductions
3. Basic principles of inheritance – Mendel inheritance
4. Extension of Mendel inheritance
5. Linked gene inheritance
6. Genetic material /chromosome structure and variation
7. From gene to protein – DNA replication and
transcription
8. From gene to protein – RNA processing
 Midterm exam
9. From gene to protein – genetic code and translation.
10. Regulation of gene expression.
11. Recombinant DNA technology, mutation and genomic
12. Organelle DNA
13. Quatitative genetics 1
14. Quatitative genetics 2
15. Population genetics
 Final exam

Each section takes 3 hrs

Additional information for the
course
Attendance (80% of the class hour) is
required for attending final exam
Assignment: from quiz, homework, test …
Grading:
Midterm: 30%
Lab: 15% (refer to the lab requirement for this
section)
Assignment: 15%
 Marks from the highest 4 out of 6 quizzes are taken as
assignment
Final exam: 40%
Bonus may be assigned during the course
 References
Textbook
Genetics: A Conceptual Approach, 2008,
Pierce, B.A, 3rd Edition. W.H. Freeman and
Comp., New York, 730 pp.
Supporting books
Genetics: Analysis & Principles, 2009,
Brooker, R.J., 3rd Edition. McGraw-Hill, New York,
844pp.
Genetics: From Genes to Genomes, 2004,
Hartwell, L.H., Hood, L., Goldberg, M.L.,
Reynolds, A.E., Silver, L.M. & Veres, R.C., 2nd
Edition. McGraw-Hill, NY. 865 pp.